title: Hydroxyglutaric aciduria and malignant brain tumor: a case report and literature review.
abstract: L -2-Hydroxyglutaric aciduria (L -2-OHGA) is a rare autosomal recessive inherited encephalopathy. This inborn error, characterized by psychomotor retardation, progressive ataxia and typical magnetic resonance imaging findings, presents in early infancy. To make a definitive diagnosis, an anomalous accumulation of L -2-hydroxyglutaric acid must be detected in body fluids. Here, we present a 17-year-old boy with L: -2-OHGA who developed an anaplastic ependymoma during the course of this disease. We also present a literature review including seven other patients who developed malignant brain tumors during the course of L -2-OHGA. This correlation may indicate a possible increased risk of brain tumors among patients with L -2-hydroxyglutaric aciduria.
authors.affiliation: Department of Radiation Oncology, Imam Khomeini Hospital Complex, Tehran University of Medical Sciences, Keshavarz Boulevard, Tehran, Iran. aghili@sina.tums.ac.ir
authors.forename: Mahdi
authors.initials: M
authors.lastname: Aghili
authors.forename: Fatemeh
authors.initials: F
authors.lastname: Zahedi
authors.forename: Elham
authors.initials: E
authors.lastname: Rafiee
mesh_terms: D000293:Adolescent; D020739:Brain Diseases, Metabolic, Inborn / Q000150:complications* / Q000652:urine; D004806:Ependymoma / Q000150:complications* / Q000652:urine; D005625:Frontal Lobe / Q000473:pathology*; D006801:Humans; D006880:Hydroxy Acids / Q000652:urine*; D008279:Magnetic Resonance Imaging / Q000379:methods; D008297:Male
chemical_list: D006880:Hydroxy Acids